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Ovarian dysgenesis 2
- ... Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010. ...
- ... Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc ...
- ... of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. Eur J Endocrinol. 2007 Aug;157(2):233-8. doi: 10.1530/EJE-07-0113. ...
- ... and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol. 2010 Apr 12;317(1-2):106-11. doi: 10.1016/j.mce.2009. ...
- ... syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... XY difference of sex development, or partial gonadal dysgenesis. The effects of these variants on the function ...